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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
非罕见病
Cavernous Hemangioma
Alias:
Hemangioma, Cavernous
Cavernous Haemangioma
Cavernoma
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
海绵状血管瘤,又称海绵状血管瘤,与脑海绵状血管畸形和血管瘤有关。与海绵状血管瘤有关的重要基因是KRIT1(KRIT1 Ankyrin Repeat Containing),其相关通路/超级通路包括先天免疫系统和MIF介导的糖皮质激素调节。在该疾病的背景下提到了普萘洛尔和阿托伐他汀。附属组织包括内皮和平滑肌,相关表型为shRNA丰度增加(Z-score>2)和正常。
Related ID:
MALACARDS:CVR006
MESH:D006392
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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30
171
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CVR006
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
#
Gene
Function
Score
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available
References Literature
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IF
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